Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2013 2019
dbSNP: rs6511720
rs6511720
LDLR
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.810 1.000 2 2013 2017
dbSNP: rs3781590
rs3781590
LRP5
1 1.000 0.040 11 68391684 intron variant G/A snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs4988300
rs4988300
LRP5
2 0.925 0.120 11 68321363 intron variant G/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.030 1.000 3 2014 2015
dbSNP: rs1057335
rs1057335
SERPINF2
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.020 1.000 2 2014 2019
dbSNP: rs2252070
rs2252070
MMP13
13 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 0.020 1.000 2 2014 2019
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 1.000 2 2014 2015
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 1.000 2 2014 2019
dbSNP: rs10758278
rs10758278
PHF24
1 1.000 0.040 9 34825306 intron variant G/A snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs12692386
rs12692386
ADAM17
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs1418184396
rs1418184396
SERPINF1
1 1.000 0.040 17 1776722 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 < 0.001 1 2014 2014
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs2070863
rs2070863
SERPINF2
1 1.000 0.040 17 1745208 missense variant C/G;T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs2276109
rs2276109
MMP12
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs2306691
rs2306691
LRP1 ; LRP1-AS
1 1.000 0.040 12 57145019 missense variant A/G snv 2.0E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs3091244
rs3091244
CRP
17 0.724 0.280 1 159714875 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3877899
rs3877899
SELENOP ; CCDC152
7 0.827 0.160 5 42801166 missense variant C/A;T snv 4.0E-06; 0.20 0.010 1.000 1 2014 2014
dbSNP: rs486055
rs486055
MMP10 ; WTAPP1
3 0.925 0.120 11 102779693 missense variant C/G;T snv 1.2E-05; 0.10 0.010 1.000 1 2014 2014